The exact causes of MDS are still not well understood, but MDS is not contagious. Risk factors (that increase the likelihood of developing MDS): Genetic predisposition: Several genes have been identified, including the DDX41 gene. Testing for this gene may be offered in certain situations, with the patient’s consent. Environmental factors: Chemotherapy or radiotherapy for a previous cancer, smoking (which doubles the risk of developing MDS), exposure to ionizing radiation (particularly among healthcare workers), and certain chemicals such as benzene or aromatic hydrocarbons.

Myelodysplastic Syndrome - Institut de la Leucémie

Q: What is a Myelodysplastic Syndrome?

hese are diseases affecting the bone marrow (which produces red blood cells, white blood cells, and platelets), causing it to function abnormally and fail to produce certain types—or all—of the normal blood cells in sufficient quantity and quality. These abnormal cells are called dysplastic cells. MDS is considered a form of blood cancer, but its progression is usually very slow and it does not necessarily reduce life expectancy. In 30% of cases, MDS can progress to a more severe form, leading to excessive production of “blasts” (immature blood cells) and severe deficiencies in all three types of normal blood cells, eventually resulting in acute myeloid leukemia.

Q: Who is affected?

MDS mainly affect older adults and are more common in men than in women. In France, approximately 4,000 cases are diagnosed each year.

Q: What are the symptoms?

In one-third of cases, MDS causes no symptoms in the very early stages and is often discovered incidentally during a blood test. In other cases: Most common symptoms: Fatigue, paleness, palpitations, and shortness of breath – signs of anemia (low red blood cell count). Fever and infections (especially lung infections) – signs of leukopenia or neutropenia (low white blood cell count). Bleeding (especially from mucous membranes) and bruising – signs of thrombocytopenia (low platelet count). These symptoms reflect bone marrow failure: the bone marrow is unable to produce sufficient red blood cells, white blood cells, and platelets.

Q: What tests are used to make the diagnosis?

Diagnosis of MDS is based on: Blood test (CBC): to identify possible abnormalities, such as low red blood cells, white blood cells, or platelets. Bone marrow examination (myelogram): which allows for: Cytology: looking for abnormal cells, particularly immature “blasts,” and morphological abnormalities. Cytogenetics: analysis of chromosomes (karyotype). Molecular biology: detection of genetic mutations. Flow cytometry immunophenotyping (FCM): analysis of cell types, in certain cases. Bone marrow biopsy (usually from the pelvic bone) may sometimes be required. Additional assessments may be performed before starting treatment: Kidney, liver, lung (chest X-ray), and heart assessments (ECG, echocardiography). Geriatric evaluation, depending on your age or comorbidities.

Understanding myelodysplastic syndromes

What is a Myelodysplastic Syndrome?

hese are diseases affecting the bone marrow (which produces red blood cells, white blood cells, and platelets), causing it to function abnormally and fail to produce certain types—or all—of the normal blood cells in sufficient quantity and quality. These abnormal cells are called dysplastic cells.

MDS is considered a form of blood cancer, but its progression is usually very slow and it does not necessarily reduce life expectancy.

In 30% of cases, MDS can progress to a more severe form, leading to excessive production of “blasts” (immature blood cells) and severe deficiencies in all three types of normal blood cells, eventually resulting in acute myeloid leukemia.

What is its cause?

The exact causes of MDS are still not well understood, but MDS is not contagious.

Risk factors (that increase the likelihood of developing MDS):

Genetic predisposition: Several genes have been identified, including the DDX41 gene. Testing for this gene may be offered in certain situations, with the patient’s consent.
Environmental factors: Chemotherapy or radiotherapy for a previous cancer, smoking (which doubles the risk of developing MDS), exposure to ionizing radiation (particularly among healthcare workers), and certain chemicals such as benzene or aromatic hydrocarbons.

What tests are used to make the diagnosis?

Diagnosis of MDS is based on:

Blood test (CBC): to identify possible abnormalities, such as low red blood cells, white blood cells, or platelets.

Bone marrow examination (myelogram): which allows for:

Cytology: looking for abnormal cells, particularly immature “blasts,” and morphological abnormalities.
Cytogenetics: analysis of chromosomes (karyotype).
Molecular biology: detection of genetic mutations.
Flow cytometry immunophenotyping (FCM): analysis of cell types, in certain cases.
Bone marrow biopsy (usually from the pelvic bone) may sometimes be required.

Additional assessments may be performed before starting treatment:

Kidney, liver, lung (chest X-ray), and heart assessments (ECG, echocardiography).
Geriatric evaluation, depending on your age or comorbidities.

Who is affected?

MDS mainly affect older adults and are more common in men than in women. In France, approximately 4,000 cases are diagnosed each year.

What are the symptoms?

In one-third of cases, MDS causes no symptoms in the very early stages and is often discovered incidentally during a blood test.

In other cases:

Most common symptoms: Fatigue, paleness, palpitations, and shortness of breath – signs of anemia (low red blood cell count).
Fever and infections (especially lung infections) – signs of leukopenia or neutropenia (low white blood cell count).
Bleeding (especially from mucous membranes) and bruising – signs of thrombocytopenia (low platelet count).

These symptoms reflect bone marrow failure: the bone marrow is unable to produce sufficient red blood cells, white blood cells, and platelets.

What are the treatments?

Treatment choices will depend on the results of the various tests, which allow MDS to be classified into two groups: high risk and low risk.

Other factors, such as age, level of independence, and medical history, are also taken into account.

Treatments Based on MDS Risk Classification

Low-Risk, Asymptomatic MDS

If there are no symptoms, it is not necessary to start treatment immediately. However, regular monitoring of blood counts and follow-up consultations with your hematologist are required.

Low-Risk, Symptomatic MDS

In the case of thrombocytopenia (low platelet count):
One treatment option is platelet transfusion. Medications such as Romiplostim (N Plate®) or Eltrombopag (Revolade®) may also be prescribed.

In the case of neutropenia (low white blood cell count):
Medications such as Filgrastim (Zarzio®, Neupogen®) or Lenograstim (Granocyte®) may be prescribed in certain cases.

In the case of anemia (low red blood cell count):
One treatment option is red blood cell transfusion. Repeated transfusions can lead to iron overload in the blood. In this case, medications such as Desferal®, Exjade®, or Jadenu® may be prescribed.

Other treatments are also available to correct anemia and reduce the need for blood transfusions.

High-Risk MDS

The main risk is progression to acute myeloid leukemia (AML). Treatment aims not only to manage MDS symptoms but also to slow down or prevent this progression.

Chemotherapy
This involves administering “cytotoxic” drugs designed to destroy abnormal cells. While effective against cancer cells, these drugs can also damage healthy cells.

Azacitidine (Vidaza®) – Learn more about “AZA VEN”

Administered by subcutaneous injection for 7 days per month, initially in a day hospital and then at home. Its effects may take 3 to 6 months, and treatment effectiveness is usually evaluated after 6 cycles. During this period, red blood cell and platelet transfusions may be necessary.

Works by reactivating certain genes in abnormal cells.

About 60% of patients respond positively, in which case treatment is continued long-term.

Intensive chemotherapy – Learn more about “Treatment”
Less commonly used today, it may be given before a stem cell transplant to destroy cancer cells. Side effects can be significant (infections, blood disorders, etc.) and may require transfusions and additional treatments.

Stem cell transplant – Learn more about “greffe”
Involves replacing the recipient’s bone marrow cells with those from a donor.
Can provide a definitive cure for more than half of patients by eliminating diseased cells and stimulating the donor’s immune response against the recipient’s abnormal cells. This is an intensive treatment with risks, especially for older patients. Mainly offered to those under 70 years old but can be considered up to 75 years.

Treatments for anemia

First-line treatment for anemia

ESAs or Erythropoiesis-Stimulating Agents – stimulate the production of red blood cells (Eprex®, Neorecormon®, Binocrit®, Retacrit®, Darbepoetin, Aranesp®)

Most commonly used treatment

Administered by subcutaneous injection, usually every 1 to 2 weeks. This injection can be done at home, either by the patient themselves if trained, or by a visiting nurse.

Particularly effective if the level of a kidney-produced hormone called EPO (which stimulates red blood cell production) is low (<500 IU/L).

Effective in about 60% of cases.

No particular side effects.

Second-line treatments for anemia

Luspatercept (Reblozyl®)

Particularly effective for MDS with SF3B1 mutations when ESAs fail.

Administered by subcutaneous injection every 3 weeks by a visiting nurse.

Positive response in about 40% of cases. Generally well tolerated. Possible side effects: fatigue, digestive issues.

Lenalidomide (Revlimid®)

Particularly effective for MDS with del(5q).

Administered orally. Positive response in 43–67% of patients after 3 cycles.

Side effect: decrease in white blood cells and platelets during the first 2–3 months of treatment, requiring close medical monitoring.

Imetelstat

Administered intravenously every 3–4 weeks in a day hospital.

Positive response in about 40% of cases. Possible side effects: fatigue, gastrointestinal issues, decreased white blood cell count.

Pending market authorization and expected to be commercially available soon.

Research on MDS

Research on MDS regularly leads to the development of new treatments.

Before being used, medications are tested for their effectiveness and for the absence of serious side effects.

You can participate in clinical trials, which are strictly regulated, with your written consent and the ability to withdraw from the study at any time without providing a reason.

Partner Associations and Cooperative Groups

Groupe Francophone des Myélodysplasies

The Groupe Francophone des Myélodysplasies (GFM) coordinates clinical trials with specialized centers and the pharmaceutical industry, while keeping patients informed about progress.

In 2024, trials were conducted to combine azacitidine with other drugs, such as Venetoclax, or to test combinations for low-risk MDS.

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Connaître et Combattre les Myélodysplasies – CCM

The CCM Association “Connaître et Combattre les Myélodysplasies” was founded in 2006.

Address: 127 rue Amelot, 75011 Paris, France
Phone: +33 6 37 22 79 87 (Thursday, 3:00 PM – 7:00 PM)
Email: associationccm@yahoo.fr
Website: www.myelodysplasies.org
Facebook: CCM.France

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